Submissions for variant NM_000890.5(KCNJ5):c.273C>T (p.Leu91=)

gnomAD frequency: 0.00037  dbSNP: rs146853795

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000392793	SCV000368927	likely benign	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302723	SCV000368928	likely benign	Familial hyperaldosteronism	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000428341	SCV000513350	benign	not specified	2015-04-14	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001394354	SCV001596037	likely benign	Long QT syndrome	2025-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436144	SCV002749391	likely benign	Cardiovascular phenotype	2019-01-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002504062	SCV002795382	likely benign	Long QT syndrome 13; Familial hyperaldosteronism type III	2021-07-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930283	SCV004744006	likely benign	KCNJ5-related disorder	2019-09-06	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).